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    MEF2D myocyte enhancer factor 2D [ Homo sapiens (human) ]

    Gene ID: 4209, updated on 15-Jun-2019

    Summary

    Official Symbol
    MEF2Dprovided by HGNC
    Official Full Name
    myocyte enhancer factor 2Dprovided by HGNC
    Primary source
    HGNC:HGNC:6997
    See related
    Ensembl:ENSG00000116604 MIM:600663
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See MEF2D in Genome Data Viewer
    Location:
    1q22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (156463721..156500842, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156433513..156470634, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Rh family B glycoprotein (gene/pseudogene) Neighboring gene chromosome 1 open reading frame 61 Neighboring gene microRNA 9-1 Neighboring gene IQ motif containing GTPase activating protein 3 Neighboring gene tetratricopeptide repeat domain 24

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe functional B-cell receptor is a multi-protein complex consisting of an antigen binding subunit and a signaling subunit. The antigen binding subunit is the membrane bound immunoglobulin and the si...
    • CDO in myogenesis, organism-specific biosystem (from REACTOME)
      CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
    • Cell Differentiation - Index, organism-specific biosystem (from WikiPathways)
      Cell Differentiation - Index, organism-specific biosystemProteins and miRNAs associated with major cell type differentiation pathways.
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Myogenesis, organism-specific biosystem (from REACTOME)
      Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • Role of Calcineurin-dependent NFAT signaling in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
      Role of Calcineurin-dependent NFAT signaling in lymphocytes, organism-specific biosystem
      Role of Calcineurin-dependent NFAT signaling in lymphocytes
    • SRF and miRs in Smooth Muscle Differentiation and Proliferation, organism-specific biosystem (from WikiPathways)
      SRF and miRs in Smooth Muscle Differentiation and Proliferation, organism-specific biosystemSmooth muscle cells exhibit a unique plasticity, in that they are able to oscillate between proliferative and more quiescent, differentiated states. These two states are determined, in part, by a net...
    • Signaling events mediated by HDAC Class III, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by HDAC Class III, organism-specific biosystem
      Signaling events mediated by HDAC Class III
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • miRs in Muscle Cell Differentiation, organism-specific biosystem (from WikiPathways)
      miRs in Muscle Cell Differentiation, organism-specific biosystem
      miRs in Muscle Cell Differentiation
    • p38 MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
      p38 MAPK Signaling Pathway, organism-specific biosystemp38 MAPKs are members of the MAPK family that are activated by a variety of environmental stresses and inflammatory cytokines. Stress signals are delivered to this cascade by members of small GTPases...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686I1536

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activating transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adult heart development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vascular smooth muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nuclear chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    myocyte-specific enhancer factor 2D
    Names
    MADS box transcription enhancer factor 2, polypeptide D

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271629.2NP_001258558.1  myocyte-specific enhancer factor 2D isoform 2

      See identical proteins and their annotated locations for NP_001258558.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon and splice site in the 5' UTR, and lacks an internal in-frame exon in the coding region, compared to variant 1. The resulting isoform (2, also known as hMEF2Da0), is shorter than isoform 1.
      Source sequence(s)
      AL139412, BC040949, R42560
      Consensus CDS
      CCDS60304.1
      UniProtKB/Swiss-Prot
      Q14814
      Related
      ENSP00000353803.3, ENST00000360595.7
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    2. NM_005920.4NP_005911.1  myocyte-specific enhancer factor 2D isoform 1

      See identical proteins and their annotated locations for NP_005911.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as hMEF2Dab).
      Source sequence(s)
      AL139412, BC054520, DC377787, R42560
      Consensus CDS
      CCDS1143.1
      UniProtKB/Swiss-Prot
      Q14814
      Related
      ENSP00000271555.5, ENST00000348159.9
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      156463727..156500840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711332.3XP_006711395.1  myocyte-specific enhancer factor 2D isoform X2

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:96151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    2. XM_006711334.3XP_006711397.1  myocyte-specific enhancer factor 2D isoform X4

      UniProtKB/Swiss-Prot
      Q14814
      Related
      ENSP00000476788.1, ENST00000464356.6
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:96151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. XM_006711333.2XP_006711396.1  myocyte-specific enhancer factor 2D isoform X3

      See identical proteins and their annotated locations for XP_006711396.1

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    4. XM_005245169.4XP_005245226.1  myocyte-specific enhancer factor 2D isoform X1

      See identical proteins and their annotated locations for XP_005245226.1

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    5. XM_017001315.1XP_016856804.1  myocyte-specific enhancer factor 2D isoform X3

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    6. XM_006711330.3XP_006711393.1  myocyte-specific enhancer factor 2D isoform X1

      See identical proteins and their annotated locations for XP_006711393.1

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    7. XM_005245170.3XP_005245227.1  myocyte-specific enhancer factor 2D isoform X1

      See identical proteins and their annotated locations for XP_005245227.1

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    8. XM_011509569.3XP_011507871.1  myocyte-specific enhancer factor 2D isoform X1

      See identical proteins and their annotated locations for XP_011507871.1

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:97152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    9. XM_017001314.1XP_016856803.1  myocyte-specific enhancer factor 2D isoform X3

      UniProtKB/Swiss-Prot
      Q14814
      Conserved Domains (2) summary
      cd00265
      Location:278
      MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat

    RNA

    1. XR_001737184.1 RNA Sequence

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